Epidermolysis bullosa simplex

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Epidermolysis bullosa simplex
Epidermolysis bullosa simplex

Epidermolysis bullosa simplex (EBS), is a disorder resulting from mutations in the genes encoding keratin 5 or keratin 14.[1]: 598 [2]

Blister formation of EBS occurs at the dermoepidermal junction. Sometimes EBS is called epidermolytic.[citation needed]

Symptoms and signs

Epidermolysis bullosa simplex-(a & b) Absent nails and plantar hyperkeratosis present (c & d) herpetiform skin blistering (e & f) cutaneous lesions

The clinical presentation of this condition is consistent with:[3]

  • Aplasia/Hypoplasia of the nails
  • Faltering weight in infancy
  • Skin ulcer
  • Pyloric stenosis
  • Neoplasm
  • Oral mucosal (blister)
  • Palmoplantar blistering


Absence of keratin-5,14 since birth.[citation needed]



Epidermolysis bullosa simplex may be divided into multiple types:

Type Locus & Gene OMIM
Epidermolysis bullosa simplex with migratory circinate erythema 12q13 (KRT5) 609352
Epidermolysis bullosa simplex with mottled pigmentation.
Associated with a recurrent mutation in KRT14.[4]: 557 [5][6]
12q13 (KRT5) 131960
Epidermolysis bullosa simplex, autosomal recessive 17q12-q21 (KRT14) 601001
Generalized epidermolysis bullosa simplex
Also known as "Koebner variant of generalized epidermolysis bullosa simplex", presents at birth to early infancy with a predilection for the hands, feet, and extremities, and palmar-plantar hyperkeratosis and erosions may be present.[1]: 598 [4]: 556 
17q12-q21 (KRT5), 12q13 (KRT14) 131900
Localized epidermolysis bullosa simplex
Also known as "Weber–Cockayne syndrome",[6]: 460  and "Weber–Cockayne variant of generalized epidermolysis bullosa simplex", is characterized by onset in childhood or later in life, and is the most common variant of epidermolysis bullosa simplex.[1]: 598 [4]: 557 
17q12-q21 (KRT5), 17q11-qter, 12q13 (KRT14) 131800
Epidermolysis bullosa herpetiformis
Also known as "Dowling-Meara epidermolysis bullosa simplex", presents at birth with a generalized distribution, often with oral mucosa involvement and variable lesions in infancy.[1]: 598 [4]: 557 
17q12-q21 (KRT5), 12q13 (KRT14) 131760
Epidermolysis bullosa simplex with muscular dystrophy
A rare clinical entity, and is the only epidermolytic epidermolysis bullosa described that is not caused by a keratin mutation, presenting as a generalized intraepidermal blistering similar to the Koebner variant of generalized epidermolysis bullosa simplex, but also associated with adult onset muscular dystrophy.[1]: 598 [4]: 557 [6]
8q24 (PLEC1) 226670
Epidermolysis bullosa simplex with pyloric atresia 8q24 (PLEC1) 612138
Epidermolysis bullosa simplex of Ogna
Has onset in infancy, presenting with seasonal blistering on acral areas during summer months.[1]: 598 [4]: 557 [6]
8q24 (PLEC1) 131950


  • No cure for EB
  • Treat symptoms
  • Protect skin, stop blister formation, promote healing
  • Prevent complications
  • Necessary treatment: use oral and topical steroid for healing and prevent complication
  • Maintain cool environment, avoid overheating and decreases friction

See also


  1. 1.0 1.1 1.2 1.3 1.4 1.5 Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
  2. Bardhan, Ajoy; Bruckner-Tuderman, Leena; Chapple, Iain L. C.; Fine, Jo-David; Harper, Natasha; Has, Cristina; Magin, Thomas M.; Marinkovich, M. Peter; Marshall, John F.; McGrath, John A.; Mellerio, Jemima E. (2020-09-24). "Epidermolysis bullosa". Nature Reviews Disease Primers. 6 (1): 78. doi:10.1038/s41572-020-0210-0. ISSN 2056-676X. PMID 32973163. S2CID 221861310. Archived from the original on 2020-11-18. Retrieved 2020-12-05.
  3. "Epidermolysis bullosa simplex | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 24 May 2021. Retrieved 3 August 2021.
  4. 4.0 4.1 4.2 4.3 4.4 4.5 James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  5. Harel, A, et al. "Epidermolysis Bullosa Simplex with Mottled Pigmentation Resulting from a Recurrent Mutation in KRT14." Journal of Investigative Dermatology. (2006) 126, 1654–1657. doi:10.1038/sj.jid.5700296; published online 6 April 2006. [1] Archived 2013-10-12 at the Wayback Machine
  6. 6.0 6.1 6.2 6.3 Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.

Further reading

External links

External resources